ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1742G>C (p.Arg581Pro)

dbSNP: rs749484350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391355 SCV001451017 pathogenic Hereditary spastic paraplegia 4 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001391355 SCV004629475 uncertain significance Hereditary spastic paraplegia 4 2023-04-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SPAST protein function. ClinVar contains an entry for this variant (Variation ID: 988983). This missense change has been observed in individual(s) with hereditary spastic paraplegia (PMID: 30476002). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 581 of the SPAST protein (p.Arg581Pro).

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